Genetic Heart Rhythm Diseases

Welcome to the Genetic Heart Rhythm Diseases page. The Mayo Clinic Windland Smith Rice Genetic Heart Rhythm Clinic, with the Windland Smith Rice Sudden Death Genomics Laboratory in Rochester, MN, is dedicated to diagnosing, treating, and researching all types of genetic heart rhythm diseases that can cause sudden death.

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PUBLIC PAGE
Apr 14 12:53pm

A Light in the Dark: Joelle's Story

By Katrina Sorensen, Research Coordinator, @katrinasorensen

Joelle

Photo credit: Winona Post/Alexandra Retter and Chris Rogers

In today's world, we may easily get dragged down by all that's going on. It's nearly impossible to get away from talk of COVID-19, and Rochester, Minn. got a foot of snow on Easter Sunday after a beautiful promise of spring the day before. So for today, we wanted to share a story of resilience and bravery of one of our patients: Joelle.

Joelle isn't your regular 15-year-old girl. She's endured more in her young life than many have had to deal with in a lifetime. But she hasn't let that stop her.

Joelle's story started nearly three years ago when she was 12 years old. Back then, she was an active girl who enjoyed basketball, volleyball and most of all, figure skating. But all of these activities came to a halt after she fainted without warning. Doctors ran a battery of tests and everything seemed to check out, but her cardiologist wasn't so sure. After more tests and several weeks passed, Joelle and her mother got the answer they were searching for: Joelle had arrhythmogenic right ventricular cardiomyopathy (ARVC).

ARVC is a type of progressive genetic arrhythmogenic (causing an arrhythmia) cardiomyopathy (a disorder of the heart muscle) that affects the right ventricle of the heart. ARVC causes the structures that connect heart cells to one another (called desmosomes) to not function properly. When this happens, the cells of the heart muscle begin to die. Over time, the heart muscle of the right ventricle is replaced by fat and scar tissue. This can eventually disrupt the electrical signals of the heart, causing abnormal heart rhythms, and eventually cause heart failure.

As one can imagine, to a 12-year-old girl and her mother, this was terrifying news. And to make matters worse, Joelle was told she could no longer play the sports she loved. "Not being able to play sports was really the worst part of it all," Joelle confided.

Over the next 2 1/2 years, Joelle and her mother went to countless appointments, endured seemingly endless hospital stays, and managed the ups and downs of her disease together. Despite everything, Joelle’s feisty, lighthearted spirit refused to be dulled. Like any other teen, she kept up her school work and socialized with her friends. Unlike any other teen, however, she became increasingly well-versed in cardiology. Her knowledge of her condition amused her doctors and classmates. “When I speak medical terms, it sounds like Spanish [to my friends at school], Joelle told the Winona Post in an interview. “I have to say things to them so it makes sense.” Eventually, her condition worsened and in late 2019, Joelle was hospitalized and placed on the transplant list.

"My family said it felt like I was in the hospital forever, but it really wasn't bad for me," Joelle told me about her two-month stay while waiting for her new heart. "I met some friends in the PICU [Pediatric Intensive Care Unit], and my nurses were incredible. Plus, child life therapy had a bunch of activities to keep us occupied. It really kept my mind off everything."

Nearly a month after she was admitted, Joelle's heart was found. "I was ready for it, I think. I had been preparing for nearly a year-and-a-half. I was ready to get it done," Joelle said.

Now, almost seven months after she received her new heart, which she affectionately named Phillip Michael, Joelle is thriving. "The name came from two people," she told me. "Michael is after Dr. Ackerman and Phillip is after Kari Phillips, a pediatric resident at Mayo. Both are amazing!"

Joelle's bright, enthusiastic personality is still talked about on the pediatric floors around Mayo Clinic. Dr. Phillips was eager to talk about Joelle.

"Joelle is a remarkable young woman. She has (and continues to) overcome more challenges than any child should have to face, and has done so with incredible bravery, selflessness, and positivity. While in the hospital awaiting transplant, she made fast friends with other patients, spending countless hours socializing and providing encouragement. She joked with staff and spread her infectious smile all over the unit. She talked regularly about getting back to school, skating and the rest of her normal life, never doubting for a minute that, with her new heart, she would soar just as high as she ever had before. She is going to do amazing things in her life, and it was a pleasure to be part of her journey."

This morning, our conversation started as most conversations start these days: talking about quarantine.

"Quarantine is nothing new," she said, laughing. "I'm pretty used to it. I was in the hospital for two months, so I know how to keep myself busy."

"Did you get to do anything before quarantine?" I asked, hopeful.

"Yes!" she answered enthusiastically. "I was able to play in the Lewiston-Altura Diggers JO Volleyball program, and in March I competed in a competition for the Winona Figure Skating Club."

"How'd you do?" I asked.

"I did pretty well," she answered coyly.

When I asked her what she's been doing to keep busy now, she didn't hesitate. "I've been doing a lot of baking. I like to bake cupcakes and cakes. Lately, I've been really into making bread: garlic bread, cinnamon rolls, pretty much anything with bread."

"I also like to work out and clean. I deep clean my room at least three times a week. And my mom and I have been watching a lot of Netflix. She likes romance movies, so we watch those."

Of course, for a 15-year-old with a heart transplant, there will always be challenges. Joelle has to take her blood pressure, temperature, weight, and pulse twice a day, plus manage all of her medications. "Right away, it was tough. The blood pressure cuff was hard to get on, but I've got it all down to five-minutes now," she said proudly. "I keep everything in one spot on the counter and my medications are all together, too. Mayo [Clinic] has a medical book that I'm able to write down my weight, blood pressure, pulse, and temperature. Then on the next page, I can write down all my medications. For five of them, I just check them off after I take them, but for two of them, I need to write down the doses because they change so frequently. It makes it easier to remind myself what my last dose was."

One of these medications, an anti-rejection medication, lowers Joelle's body's ability to fight infections and illnesses. Because of this, she is forced to wear a mask anytime she goes out in public, especially now.

"I know right away, you hated having to wear the mask," I started to say, but she knew where I was going.

"I fit right in now!" she said laughing. "I was already used to getting stares, but now no one even looks twice. I wear my mask where other people don't, though. Like when I'm walking my dogs, Mosbie and Bailey, I sometimes get a strange stare, but I think people are wondering if I have COVID," she said.

For now, Joelle is going to continue to stay home with her mom and her dogs, but like most teens her age, she’s ready to go out into the world again. “I miss everyone. It’s hard not to see my friends. But I still talk to them through Snapchat – even the ones I met in the PICU,” she said.

So what’s next for Joelle? Only time will tell, but with her new heart anything is possible.

To read more about Joelle and her journey with ARVC, visit the Winona Post's articles Joelle's new heart (published on 2/26/2020) and Joelle's story: Back on the ice (published 2/20/2019).

Meet other people talking about genetic heart disorders and transplants on Mayo Clinic Connect. Join the Heart Rhythm Conditions group or the Transplant page to join the conversation, share experiences, ask questions and discover your support network.

For up-to-date information, please follow Dr. Ackerman and the Windland Smith Rice Genetic Heart Rhythm Clinic on Twitter by clicking the links below.

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